Taking Care of Your Aorta 10/15/18 (Virtual Medical Symposium Series)
44:01-44:54
Q:
So here's one question, right off the bat, If somebody does not have the aortic problem, does that mean the patient's not have Marfan?
早速質問が寄せられています。大動脈に問題がないなら、マルファン症候群ではないのでしょうか？というご質問です。
A:
The greatest majority of people, so that's a good question, so the question is, is "If the aorta is okay, is it that they do not have Marfan syndrome?" So the diagnosis of Marfan syndrome typically involves aortic enlargement, but it doesn't have to. You can have ectopia lentis and an FBN1 gene mutation and skeletal features of Marfan syndrome where the FBN1 gene mutation is known to lead to Marfan syndrome in your family or another family.
マルファン症候群の診断では通常、大動脈の拡張も手がかりとなりますが、必ずしもそうとは限りません。水晶体亜脱臼やFBN1遺伝子の変異、骨格の特徴なども診断基準となります。FBN1遺伝子の変異によって家系内でマルファン症候群が発症します。
So it could be that the aorta just hasn't enlarged yet and and then follow-up would be recommended, but, but most patients with Marfan syndrome will have aortic enlargement on diagnosis and the greatest majority of people with Marfan syndrome will have aortic enlargement during their lifetime.
この方の場合、まだ大動脈が拡張していないのだと思いますので、定期的な検査をおすすめします。大部分のマルファン患者さんでは診断時に大動脈の拡張がみられますし、ほとんどのマルファン患者さんでは、一生のうちのどこかで大動脈が拡張します。
The Marfan Foundation did not participate in the translation of these materials and does not in any way endorse them. If you are interested in this topic, please refer to our website, Marfan.org, for materials approved by our Professional Advisory Board.
The Marfan Foundation は、当翻訳には関与しておらず、翻訳内容に関してはいかなる承認も行っておりません。このトピックに興味をお持ちの方は、Marfan.orgにアクセスし、当協会の専門家から成る諮問委員会が承認した内容をご参照ください。
